PNPLA6 Disorders.
Synofzik M, Hufnagel RB, Züchner S.
2014 Oct 9 [updated 2021 Jun 10]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
Cerebrotendinous Xanthomatosis.
Federico A, Gallus GN.
2003 Jul 16 [updated 2024 Nov 14]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
DDX3X-Related Neurodevelopmental Disorder.
Johnson-Kerner B, Snijders Blok L, Suit L, Thomas J, Kleefstra T, Sherr EH.
2020 Aug 27. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
SOX2 Disorder.
Williamson KA, Yates TM, FitzPatrick DR.
2006 Feb 23 [updated 2020 Jul 30]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
POLR3-Related Leukodystrophy.
Bernard G, Vanderver A.
2012 Aug 2 [updated 2017 May 11]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
Fucosidosis.
Stepien KM, Jones S, Wang R.
2026 Apr 2. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
A de novo ZMYM2 gene variant associated to a Rett-like phenotype: Case report of a new phenotype and review of the literature.
Politano D, Marazzi F, Scognamillo I, Morelli F, Signorini S, Gana S, Nicolosi S, Rognone E, Borgatti R, Valente EM, Romaniello R.
Brain Dev. 2025 Jun;47(3):104351. doi: 10.1016/j.braindev.2025.104351. Epub 2025 Mar 19.
Dominant optic atrophy.
Lenaers G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P, Milea D.
Orphanet J Rare Dis. 2012 Jul 9;7:46. doi: 10.1186/1750-1172-7-46.
Hydrocephalus in children.
Rizvi R, Anjum Q.
J Pak Med Assoc. 2005 Nov;55(11):502-7.
Familial spastic paraplegia, mental retardation, and precocious puberty.
Raphaelson MI, Stevens JC, Elders J, Comite F, Theodore WH.
Arch Neurol. 1983 Dec;40(13):809-10. doi: 10.1001/archneur.1983.04050120059008.
